ABCA3-related interstitial lung disease beyond infancy.
ABCA3
paediatric interstitial lung disease
rare lung diseases
Journal
Thorax
ISSN: 1468-3296
Titre abrégé: Thorax
Pays: England
ID NLM: 0417353
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
received:
19
07
2022
accepted:
30
12
2022
medline:
18
5
2023
pubmed:
23
2
2023
entrez:
22
2
2023
Statut:
ppublish
Résumé
The majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop severe respiratory insufficiency within their first year of life and succumb to disease if not lung transplanted. This register-based cohort study reviews patients with ABCA3 lung disease who survived beyond the age of 1 year. Over a 21-year period, patients diagnosed as chILD due to ABCA3 deficiency were identified from the Kids Lung Register database. 44 patients survived beyond the first year of life and their long-term clinical course, oxygen supplementation and pulmonary function were reviewed. Chest CT and histopathology were scored blindly. At the end of the observation period, median age was 6.3 years (IQR: 2.8-11.7) and 36/44 (82%) were still alive without transplantation. Patients who had never received supplemental oxygen therapy survived longer than those persistently required oxygen supplementation (9.7 (95% CI 6.7 to 27.7) vs 3.0 years (95% CI 1.5 to 5.0), p The natural history of ABCA3-related interstitial lung disease progresses during childhood and adolescence. Disease-modifying treatments are desirable to delay such disease course.
Sections du résumé
BACKGROUND
The majority of patients with childhood interstitial lung disease (chILD) caused by pathogenic variants in ATP binding cassette subfamily A member 3 (ABCA3) develop severe respiratory insufficiency within their first year of life and succumb to disease if not lung transplanted. This register-based cohort study reviews patients with ABCA3 lung disease who survived beyond the age of 1 year.
METHOD
Over a 21-year period, patients diagnosed as chILD due to ABCA3 deficiency were identified from the Kids Lung Register database. 44 patients survived beyond the first year of life and their long-term clinical course, oxygen supplementation and pulmonary function were reviewed. Chest CT and histopathology were scored blindly.
RESULTS
At the end of the observation period, median age was 6.3 years (IQR: 2.8-11.7) and 36/44 (82%) were still alive without transplantation. Patients who had never received supplemental oxygen therapy survived longer than those persistently required oxygen supplementation (9.7 (95% CI 6.7 to 27.7) vs 3.0 years (95% CI 1.5 to 5.0), p
CONCLUSION
The natural history of ABCA3-related interstitial lung disease progresses during childhood and adolescence. Disease-modifying treatments are desirable to delay such disease course.
Identifiants
pubmed: 36808083
pii: thorax-2022-219434
doi: 10.1136/thorax-2022-219434
pmc: PMC10314027
doi:
Substances chimiques
ATP-Binding Cassette Transporters
0
ABCA3 protein, human
0
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
587-595Informations de copyright
© Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
Ann Thorac Med. 2016 Jul-Sep;11(3):227-9
pubmed: 27512515
Ann Anat. 2017 Mar;210:135-146
pubmed: 28034695
Respir Med Case Rep. 2018 Mar 06;23:173-175
pubmed: 29719811
Pediatr Int. 2021 May;63(5):602-604
pubmed: 33818848
Eur J Pediatr. 2013 Jul;172(7):953-7
pubmed: 23443156
BMC Med Genomics. 2021 Oct 29;14(1):256
pubmed: 34715861
Nucleic Acids Res. 2020 Jan 8;48(D1):D835-D844
pubmed: 31777943
Thorax. 2017 Mar;72(3):213-220
pubmed: 27516224
Hum Mutat. 2018 Jun;39(6):841-850
pubmed: 29505158
Am J Respir Crit Care Med. 2006 Sep 1;174(5):571-80
pubmed: 16728712
Int J Mol Sci. 2021 Sep 24;22(19):
pubmed: 34638622
Respirol Case Rep. 2020 Aug 07;8(7):e00633
pubmed: 32782805
Radiology. 2008 Mar;246(3):697-722
pubmed: 18195376
Nat Methods. 2010 Apr;7(4):248-9
pubmed: 20354512
Am J Respir Crit Care Med. 2013 Aug 1;188(3):376-94
pubmed: 23905526
Pediatr Pulmonol. 2016 Jun;51(6):E21-3
pubmed: 26780485
Curr Opin Pulm Med. 2020 May;26(3):293-301
pubmed: 32238781
ERJ Open Res. 2019 Jul 22;5(3):
pubmed: 31360696
Bioinformatics. 2015 Aug 15;31(16):2745-7
pubmed: 25851949
Pediatr Pulmonol. 2016 Jan;51(1):E1-3
pubmed: 26222203
Arch Dis Child. 2013 Jul;98(7):490-5
pubmed: 23625987
Respirology. 2010 Nov;15(8):1197-202
pubmed: 20920129
Thorax. 2008 Apr;63(4):366-73
pubmed: 18024538
Hum Mol Genet. 2012 Feb 15;21(4):765-75
pubmed: 22068586
Eur J Pediatr. 2008 Jun;167(6):691-3
pubmed: 17618459
Eur Respir J. 2014 Feb;43(2):638-41
pubmed: 24136335
J Perinatol. 2015 Mar;35(3):231-2
pubmed: 25712598
Eur J Pediatr. 2014 Dec;173(12):1553-6
pubmed: 23846195
Pediatr Pulmonol. 2013 Oct;48(10):1035-8
pubmed: 23818309
Am J Respir Crit Care Med. 2014 Jun 15;189(12):1538-43
pubmed: 24871971
Eur Respir J. 2012 Dec;40(6):1324-43
pubmed: 22743675
BMJ Case Rep. 2013 Jun 24;2013:
pubmed: 23814005
N Engl J Med. 2001 Feb 22;344(8):573-9
pubmed: 11207353
Chest. 2008 Jul;134(1):192-5
pubmed: 18628224
Clin Genet. 2021 Jun;99(6):789-801
pubmed: 33598926
Pediatr Pulmonol. 2018 May;53(5):E12-E14
pubmed: 29566461
Arch Bronconeumol. 2012 Apr;48(4):139-40
pubmed: 22304854
Pediatr Res. 2014 Nov;76(5):453-8
pubmed: 25105258
Eur Respir J. 2023 Feb 2;61(2):
pubmed: 36041751
Pediatr Pulmonol. 2014 Mar;49(3):299-301
pubmed: 24115460